Publications

See a list of Tyler Pierson, MD, PhD latest publications.


Selected Publications

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, et al. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902. http://www.neurology.org/content/83/10/898

Zhu P-P, Denton KR, Pierson TM, Li XJ, Blackstone C. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A. Hum Mol Genet. 2014 Jun 6. pii: ddu280 http://hmg.oxfordjournals.org/content/early/2014/06/20/hmg.ddu280

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Schindler A, Toro C, Gahl WA, Mahuran D, Blackstone C, Pierson TM. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. http://onlinelibrary.wiley.com/doi/10.1002/acn3.64/full

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, et al. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nat Commun. 2014;5:3251. http://www.nature.com/ncomms/2014/140207/ncomms4251/full/ncomms4251.html

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin and Transl Neurol. 2014 Mar 1;1(3):190-198. http://onlinelibrary.wiley.com/doi/10.1002/acn3.39/full

Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, et al. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain. 2013 Jan;136(Pt 1):194-208. http://brain.oxfordjournals.org/content/136/1/194.full

Pierson TM, Torres PA, Zeng BJ, Glanzman AM, Adams D, Finkel RS, Mahuran DJ, Pastores GM, Tennekoon GI, Kolodny EH. Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase. Mol Genet Metab. 2013 Jan;108(1):65-69. http://www.sciencedirect.com/science/article/pii/S1096719212004106

Pierson TM, Adams DR, Markello TC, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 2012 Jul 10;79(2):123-126. http://www.neurology.org/content/79/2/123

Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet. 2012 Apr;20(4):476-479. http://www.nature.com/ejhg/journal/v20/n4/full/ejhg2011222a.html

Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med. 2012 Jan;14(1):51-59. http://www.nature.com/gim/journal/v14/n1/full/gim0b013e318232a005a.html

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin (For The Nisc Comparative Sequencing Program) JC, Blakesley RW, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10). http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002325

Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromuscul Disord. 2011 May;21(5):353-355. http://www.nmd-journal.com/article/S0960-8966(11)00030-7/abstract

Cable C, Finkel RS, Lehky T, Biassou N, Wiggs EA, Bunin N, Pierson TM. Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a five-year follow-up in three affected siblings. Mol Genet Metab. 2011 Feb;102(2):207-209. http://www.sciencedirect.com/science/article/pii/S1096719210003616

Pierson TM, Bonnemann CG, Finkel RS, Bunin N, Tennekoon GI. Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol. 2008 Nov;64(5):583-587. http://onlinelibrary.wiley.com/doi/10.1002/ana.21522/abstract

Pierson TM, Wang Y, DeMayo FJ, Matzuk MM, Tsai SY, Omalley BW. Regulable expression of inhibin A in wild-type and inhibin alpha null mice. Mol Endocrinol. 2000 Jul;14(7):1075-1085. http://press.endocrine.org/doi/full/10.1210/mend.14.7.0478

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